Insights Into Creutzfeldt-Jakob Disease With a Case Series From a District General Hospital and a Literature Review

TL;DR

This study examines five cases of sporadic Creutzfeldt-Jakob disease and emphasizes the importance of MRI in early diagnosis and patient management.

Contribution

The paper presents a rare cluster of CJD cases in a general hospital and underscores the diagnostic value of MRI in atypical presentations.

Findings

MRI showed cortical and deep grey matter diffusion restriction in all five sCJD cases.

Early MRI use facilitated accurate diagnosis and differentiation from reversible neurological conditions.

The study highlights the need for vigilance and multidisciplinary collaboration in general hospital settings.

Abstract

Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive, and invariably fatal neurodegenerative disorder caused by misfolded prion proteins accumulating in the central nervous system. Sporadic CJD (sCJD), the most common subtype, typically presents with rapidly progressive dementia, myoclonus, ataxia, and akinetic mutism. Radiological imaging, particularly diffusion-weighted MRI, has emerged as a cornerstone in the early diagnosis of sCJD, often identifying abnormalities before other tests become positive. This case series presents five patients diagnosed with sCJD at a single district general hospital, including a rare cluster of three cases within one calendar year. Each case highlights the crucial role of MRI in diagnosing CJD. In all cases, MRI demonstrated cortical and/or deep grey matter diffusion restriction with corresponding variable fluid-attenuated inversion recovery (FLAIR) signal changes, most prominently involving the frontoparietal and occipital lobes or basal ganglia. EEG and cerebrospinal fluid (CSF) analysis, including real-time quaking-induced conversion (RT-QuIC), supported the clinical diagnosis. This series highlights the importance of timely neuroimaging in the diagnostic pathway of sCJD and underscores the role of radiology in facilitating early specialist referral, infection control measures, and accurate disease classification. This series also highlights the importance of multidisciplinary collaboration and the need for vigilance, even in general hospital settings, as imaging can detect otherwise overlooked or atypical cases. Early radiological identification not only aids in confirming diagnosis but also plays a key role in differentiating CJD from potentially reversible mimics, ensuring appropriate patient management.

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